Canonical Allele Identifier: PA321341
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213274
ClinVar RCV Id: RCV000196921 RCV001729450 RCV002311054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Arg509Leu
CA321340
NM_001999.4:c.1526G>T